Found: 7
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Evaluation of Somatic Development in Adult Patients with Previously Undiagnosed and/or Untreated Phenylketonuria.
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- Medical Principles & Practice, 2009, v. 19, n. 1, p. 46, doi. 10.1159/000252834
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- Article
An Investigation of the Neurological and Neuropsychiatric Disturbances in Adults with Undiagnosed and/or Untreated Phenylketonuria in Poland.
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- Journal of Applied Research in Intellectual Disabilities, 2011, v. 24, n. 5, p. 482, doi. 10.1111/j.1468-3148.2011.00628.x
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- Article
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 185, doi. 10.1007/s10545-010-9244-x
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- Article
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency in Poland.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 373, doi. 10.1007/s10545-010-9190-7
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- Article
Aminoacylase 1 deficiency associated with autistic behavior.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 211, doi. 10.1007/s10545-010-9089-3
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- Article
Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78‐year‐old patient.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 21, doi. 10.1007/s10545-009-9011-z
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- Article
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
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- Human Mutation, 2010, v. 31, n. 3, p. 279, doi. 10.1002/humu.21186
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- Article